Varaico: Literature-Extracted Genetic Variants

MAGI2

274 papers

RefSeq Summary

The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded pro...

Pfam Domains

PDZaa 17–98UCSCPDZ domain

Guanylate_kinaa 120–191UCSCGuanylate kinase

MAGI_u1aa 198–259UCSCUnstructured region on MAGI

WWaa 304–333UCSCWW domain

PDZaa 426–506UCSCPDZ domain

PDZaa 605–679UCSCPDZ domain

Gene Aliases

HGNC Name

membrane associated guanylate kinase, WW and PDZ domain containing 2

HGNC Alias Symbols

AIP1; ARIP1; KIAA0705; ACVRIP1; MAGI-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_012301.4

p.L1033M

c.3097C>A

Surrounding Variants

1 paper

NM_012301.4

p.P1038S

c.3112C>T

1 paper

NM_012301.4

p.A1040V

c.3119C>T

1 paper

NM_012301.4

p.A1040A

c.3120C>A

1 paper

NM_012301.4

p.E1022D

c.3066G>T

1 paper

NM_012301.4

p.S1043T

c.3128G>C

1 paper

NM_012301.4

p.E1022D

c.3066G>C

1 paper

NM_012301.4

p.P1047S

c.3139C>T

2 papers

NM_012301.4

p.E1066K

c.3196G>A

1 paper

NM_012301.4

p.E1011Splc

c.3031+1G>C

1 paper

NM_012301.4

p.I1006T

c.3017T>C

1 paper

NM_012301.4

p.R1005C

c.3013C>T

1 paper

NM_012301.4

p.D990H

c.2968G>C